Thursday, January 26, 2012

We saw the pediatric neurologist today. He told us that they did not see anything additional on the MRI, which is excellent news as it means we are much more likely to be in the category with less dire outcomes. If you're interested, this paper provides a pretty good summary both of their own findings and the literature. So at this point it's just a waiting game - we will do another MRI post-birth, and hope that they don't find anything additional on that either (the fetal MRI can be a bit of a guessing game b/c the fetus is moving around so it's hard to get perfect images).

We have another u/s in 2.5 weeks to check on the status of the kidneys; the would consider early delivery if those progress, as fluid in the kidneys if it builds up too much can cause a dearth of amniotic fluid (which is essentially the baby's urine), and can also cause kidney damage. I am hoping that since truffle's kidney size was relatively stable between 18 and 28 weeks that it will remain that way - having to deliver him prematurely is definitely not ideal, I think that the extra cooking time is even more important for him than someone without brain abnormalities. I have a feeling that as long as the post-birth MRI comes back clear, we won't know for a long time what we're dealing with, as a lot of the issues that these kids have do not necessarily show up in the early days.

One thing from the paper that I referenced that took us by surprise was that in the group with isolated agenesis, 60/87 chose to terminate, and in the group with additional brain abnormalities, 70/88 chose termination.

Tuesday, January 24, 2012

The MRI today wasn't too bad. I asked before the procedure if I could lie on my side and the nurse said she didn't think that would be possible as they need to get things in a certain plane. So I started out lying on my back. After a bit (there were no timepieces, so not sure how long, but Mark who was in the room with me guesstimated 10-15min) I started feeling lightheaded, a bit queasy and clammy as if i was going to faint, so I squeezed the emergency bladder they give you and got the heck out of there. I couldn't do another half hour of that, so i told them I had to lie on my side - and turns out that was fine. So they gave me a bunch of pillows, and I was comfortable enough that I actually fell asleep (I was practicing my Bradley relaxation - guess it worked!)

After we were all done, the doc came out and told us that on his preliminary look at the scans there was nothing additional to what we had been told yesterday, but those findings were confirmed.

We then went to see the doc who did yesterday's ultrasound, and talked to her for about 45 minutes. She said that at the u/s she wasn't sure if the corpus callosum was partially there or not - turns out it is completely missing, and the ventriculomegaly was confirmed as well, but the two are intimately linked (in this case, there can be other causes of the ventriculomegaly). The MRI doc looked specifically for some other brain defects that can be associated with the missing corpus callosum and didn't see any of those (although he said that he would need more time and a fine tooth comb to make sure that some of the finer details are as they should be, like the infolding on the surface of the brain).

So we are *really* hoping that there are no additional abnormalities that are discovered in the next few days. Please.

Then we spent quite a bit of time talking about what we might expect. She said that if the missing corpus callosum is an isolated finding, i.e. no other abnormalities, there is a 60% chance that Truffle could be totally normal, or have such mild deficiencies that one wouldn't notice without them being specifically pointed out. 40% chance of some kind of developmental delay. If there is an additional finding that comes out from the MRI, and perhaps the fluid on the kidneys is such an additional finding - it is unclear if the two are linked or not, then the chance of delays goes up to 70%. The reason it's unclear is that the missing corpus callosum is not typically seen with kidney fluid, or vice-versa. So it's possible that there is some underlying genetic issue like a trisomy of some chromosome that is causing both of these, which would put us in the latter category, but if it's just two random occurrences, then there is a higher chance that we would have no issues.

They offered for us to meet with a neurologist once the MRI reading is complete, to get a better sense of what the range of outcomes would look like; as a physician who sees patients he could give us perhaps a more complete picture based on his experience.

We could also do an amnio to find out whether there is an underlying karyotype issue that is causing these findings, but both my OB and the u/s doc said that if termination is off the table (which it is for me as I mentioned yesterday), they would recommend strongly against an amnio at this point because it could cause preterm labor - and in a baby with a brain abnormality, the last thing you want is additional stress and issues from prematurity. So that, for me, is also out at the moment. I don't see the need to have that information before he is born; perhaps afterwards as it might help us have a better idea of what to expect, but I don't think things will change much for a newborn so I don't think we need to know before that.

Mark's parents also know two people who had the same abnormality discovered via ultrasound, and both are completely healthy, functioning individuals.

So I think that overall, despite the confirmation of the missing corpus callosum, the information we received today (and what I found in some googling I did yesterday) is overall not as bad as I initially feared, when I heard, "an important part of your baby's brain is probably missing".

I'm fully prepared for us to have some struggles, it would be nice if everything worked out happy clappy, but I'm not going to bank on that, and I know that no matter what Truffle will be loved. It seems to me that severe issues are unlikely (will get more info from the neurologist on what the "worst case" scenario would look like), and we will be okay.

Thank you SO much for all your thoughts, comments, and prayers - means so much to me to know we have so many people on our side. xoxo.

Monday, January 23, 2012

Bit of backstory first. We did the Early Risk Assessment at 11w4d. Bloodwork came back normal (risk of Down's syndrom in the 1:1000 range, trisomy 13/18 in the 1:3000 range), NT measurement was good, but they couldn't visualize the nasal bone, which is a soft marker for Down's. So we had another scan 10 days later, at which everything fortunately looked good, and so our risk of Down's decreased to 1:3200 and 13/18 to 1:5000-ish. So it was a little worrisome, but everything seemed to turn out okay. This was the point at which we decided to share our news with the boys and the world.

Fast forward to our anatomy scan at 17w4d... we found out we're having another boy, and that he, at the time, had excess fluid in his kidneys (Hydronephrosis). The doc told us that this is fairly common, particularly in boys, usually resolves itself, but if not just bears watching over time to ensure that it's not affecting amniotic fluid or anything else in the pregnancy. Also that it is a soft marker for Down's, but given that everything else looked great, it only increased our risk to 1:1600 - so pretty much not even on the radar screen for me. But we were scheduled for another ultrasound for 10w later to monitor the kidneys = today.

I was honestly pretty unconcerned about all this. DH was debating about coming to the u/s, saying, "well, what if we get some bad news like the baby does have Down's, I wouldn't want you to be alone for that" (as I was at our 10wk appointment when I found out Schweffel had no heartbeat). I told him that if it worked out with his schedule at work he should come, but no need to jump through any hoops. I was expecting that just like in the cases of many of my friends who have had various soft markers on ultrasounds, like spots in the brain or whatever, that the excess fluid would be gone by now, and we'd get the all clear.

Well, not so much. Not only was the fluid in the kidneys still there, when they scanned the rest of Truffle's anatomy, they found that he now has a buildup of fluid in the ventricles in his brain, a condition called "ventriculomegaly" which can be associated with anything from completely normal outcome (which is what the article from Children's suggests as the most likely) to mild developmental delays to severe retardation, mostly depending on the cause. The doc looked around at the rest of the brain, and apparently one potential cause of the ventriculomegaly is that the corpus callosum, which is the structure that connects the two halves of the brain, can be missing (agenesis) - and she couldn't find it on the ultrasound, or maybe only part of it (and I'm not sure if she was just saying that to avoid giving us all the bad news at once). So we're going for an MRI tomorrow for a more detailed look. The range of outcomes if the CC is in fact missing is much less likely to include "normal". It sounded like they are more of the opinion that this is some kind of chromosomal problem given that we now have two abnormal findings; the kidneys which have not resolved (although not gotten worse either, which I suppose is good), and the potential malformation in the brain.

Obviously, not what we wanted to hear. For me what made it even harder was that each person we spoke to about it (the radiologist, my OB, and the genetic counselor) made sure to mention that although termination is not an option in this state, they could refer me out of state if that was what our decision was, if the additional testing confirmed abnormalities. I couldn't even begin to think about it without sobbing. I had held myself together pretty well up until that was mentioned, but that's what necessitated tissues. (I honestly can't imagine terminating at this point unless Truffle wasn't going to be able to survive, and even then I'm not sure I could willfully end his life).

I'm trying really hard at the moment not to drive myself crazy with what-ifs and to wait until tomorrow when we will have more information (they were able to schedule the MRI for tomorrow afternoon). I know that we will all love Truffle regardless but at the same time this may mean a very different future, particularly for me, than I had envisioned. Mostly I'm managing, aside from not being able to write this news to anyone without sobbing. And forget talking about it. I'm sure as things settle in and I'm used to our new normal it will be okay, but having to adjust that normal is hard.

So please, think good thoughts for us, and hope that we don't get worse news tomorrow.

About Me

Thought I would "get healthy" in preparation for having a baby. Lost 20lbs to a BMI of around 20 in May-Jun '04. Went off the pill right after that, and surprise surprise, didn't even get my period. Diagnosed with hypothalamic amenorrhea. Gained some weight, cut exercise, didn't have anyone else with HA to ask questions of, so ended up moving to injectables, 4 BFN cycles. Surprise natural pregnancy while waiting to do IVF (and having gained those 20lbs back, cut my exercise 50%). DS#1 born 08/2006. Cycled fairly normally 1 year later, DS#2 born 09/2008. Cycles returned 10 months later. M/c 06/2010, then DS#3 born 04/2012 through IVF.